FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

722209002: Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331161015 Fitzsimmons McLachlan Gilbert syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331163017 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3331164011 Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402856019 A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402857011 A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Congenital paraplegia false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Spastic paraplegia true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Structure of central nervous system (body structure) true Inferred relationship Some 4
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Hyperkeratosis false Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Keratinization false Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Some 2
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Talipes cavus (disorder) true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Rough skin of hands true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Keratinization true Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 6
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Foot structure true Inferred relationship Some 1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Claw-shaped deformity true Inferred relationship Some 1
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Ankle region structure true Inferred relationship Some 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology Deformity true Inferred relationship Some 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a Inherited disorder of keratinisation true Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 8
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 8
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Adaptation behavior (observable entity) false Inferred relationship Some 9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Impaired false Inferred relationship Some 9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Movement true Inferred relationship Some 11
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Movement observable true Inferred relationship Some 10
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Absent true Inferred relationship Some 10
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 9
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 13
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 12
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 12

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start